Rare Disease Show : Episode 5 Understanding Osteopetrosis with Dr Muhammed Nazeer

Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.

Rare Disease Show Episode 5-- In today's show we will cover Osteopetrosis.

Osteopetrosis, or marble bone disease, is a rare genetic disorder where bones become overly dense and brittle due to defective bone resorption. This results in frequent fractures, bone deformities, and growth issues. Severe cases can cause vision and hearing loss, anemia, and bone marrow problems. Treatment options are limited and focus on managing symptoms and complications.

In this episode, Dr Muhammed Nazeer, an expert in Joint Replacement, Arthroscopy, Paediatric Orthopaedics and Trauma shares his insights by addressing questions asked by the Medical Dialogues team.

1. Firstly, can you provide an overview of osteopetrosis – why is it considered a rare disease and also please highlight its main characteristics?
2. What are the different types of osteopetrosis, and how do they vary in terms of severity and symptoms?
3. What causes osteopetrosis, and is it primarily a genetic disorder?
4. How is osteopetrosis diagnosed, and what imaging or tests are typically used?
5. How do you approach the management and treatment of fractures in patients with osteopetrosis?
6. Can you discuss the role of bone marrow transplants in treating severe cases of osteopetrosis?
7. How does osteopetrosis impact the overall quality of life, and what supportive care is recommended?